caa a22 4500 397573251 CHVBK 20180308164847.0 cr unu---uuuuu 161202e199606 xx s 000 0 eng 10.1093/hmg/5.6.843 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.6.843 A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3 [Elektronische Daten] [A. L. Sertié, M. Quimby, E. S. Moreira, J. Murray, M. Zatz, S. E. Antonarakis, M. R. Passos-Bueno] Knobloch syndrome (KS), characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele, was recently confirmed as autosomal recessive. Here we report the assignment of the gene for this syndrome to 21q22.3 with the marker D21S171 through homozygosity mapping in a highly inbred Brazilian family with 11 affected individuals. A total of nine markers spanning a region of 15.2 cM of the chromosome 21q22.3 were tested and the candidate region was restricted to an interval of 4.3 cM. © 1996 Oxford University Press Sertié A. L. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut Quimby M. Department of Pediatrics, University of Iowa, Iowa, USA aut Moreira E. S. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut Murray J. Department of Pediatrics, University of Iowa, Iowa, USA aut Zatz M. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut Antonarakis S. E. Division de Génétique Médicale, Université de Genève, Geneva, Switzerland aut Passos-Bueno M. R. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut Human Molecular Genetics Oxford University Press 5/6(1996-06), 843-847 0964-6906 5:6<843 1996 5 hmg https://doi.org/10.1093/hmg/5.6.843 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.6.843 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sertié A. L. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Quimby M. Department of Pediatrics, University of Iowa, Iowa, USA aut NATIONALLICENCE 700 1- Moreira E. S. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Murray J. Department of Pediatrics, University of Iowa, Iowa, USA aut NATIONALLICENCE 700 1- Zatz M. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 700 1- Antonarakis S. E. Division de Génétique Médicale, Université de Genève, Geneva, Switzerland aut NATIONALLICENCE 700 1- Passos-Bueno M. R. Departamento de Biologia, Universidade de São Paulo, São Paulo, Brazil aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/6(1996-06), 843-847 0964-6906 5:6<843 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford